Hearing loss is one of the most common disabilities and has lifelong consequences for affected children and their families. Both conductive and sensorineural hearing loss (SNHL) may be caused by a wide variety of congenital and acquired factors. Its early detection, together with appropriate intervention, is critical to speech, language and cognitive development in hearing-impaired children. In the last two decades, the application of universal neonatal hearing screening has improved identification of hearing loss early in life and facilitates early intervention. Developments in molecular medicine, genetics and neuroscience have improved the aetiological classification of hearing loss. Once deafness is established, a systematic approach to determining the cause is best undertaken within a dedicated multidisciplinary setting. This review addresses the innovative evidences on aetiology and management of deafness in children, including universal neonatal screening, advances in genetic diagnosis and the contribution of neuroimaging. Finally, therapy remains a major challenge in management of paediatric SNHL. Current approaches are represented by hearing aids and cochlear implants. However, recent advances in basic medicine which are identifying the mechanisms of cochlear damage and defective genes causing deafness, may represent the basis for novel therapeutic targets including implantable devices, auditory brainstem implants and cell therapy.